Update March 2018

ISMRD is pleased to have funded the first year of Sandra’s research project and we are delighted to note that continued funding of this work has successfully been obtained from the German Research Foundation. Read Sandra’s year one report here.

December 2016

ISMRD is delighted to announce on behalf of all our funding partners in the ML Research initiative, the approval of a second proposal to begin research on Osteoporosis in Mucolipidosis II – A Potential Corrective approach.

Dr Sandra Pohl works in the section of Biochemistry, Children’s Hospital, University Medical Centre Hamburg-Eppendorf, Germany. Her work will look at how I1-6 may represent a potential target for the treatment of osteoporosis in ML II and ML III.

The aim of the project is: Skeletal alterations are common symptoms in mucolipidosis (ML) II and III patients leading to progressive decline of mobility, stiffness and chronic joint pain, strongly reducing the quality of life. In bone cells of patients the targeting of multiple lysosomal enzymes is disturbed. Consequently, the accumulation of nondegraded storage material in lysosomes impairs the function of bone-forming osteoblasts, osteocytes and chondrocytes of the cartilage. We found that the progressive bone loss in MLII mice is caused by the presence of dysfunctional osteoblasts combined with an increased number of bone-resorbing osteoclasts, which is most likely induced by the strongly elevated expression of the osteoclastogenic cytokine interleukin-6 (Il-6), that could be shown also in MLIII cultured osteoblasts. Therefore,cytokine interleukin (IL-6) may represent a potential target for treatment of osteoporosis in MLII and MLIII to restore correct bone remodeling in patients. The applied experimental in-vivo approach to block Il-6-mediated increase in osteoclast number in MLII and MLIII represents an urgent first step therapeutic strategy, which can profit from the concomitant phase II clinical studies using an Il-6 signaling inhibitor.

ISMRD is thrilled with the tremendous support from so many families and groups towards this outcome, and delighted to be supporting this significant new development in research into this serious disease.

The Wagner Foundation, The Irish MPS Society,
The Austrian MPS Society, Rock4Dakotah